{"id":"W4411989775","doi":"10.1002/jimd.70057","title":"Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases","year":2025,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Newborn screening; Disease; Metabolic disease; Medicine; Asymptomatic; Biotinidase deficiency; Pediatrics; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":["metaepi_narrow"],"category_scores_codex":[0.0007020612,0.001689298,0.005001097,0.00117671,0.0004012602,0.0003671452,0.001669578,0.0007157326,0.0001051638],"category_scores_gemma":[0.006482442,0.001455135,0.004801147,0.001116889,0.0002882874,0.00006114395,0.00030474,0.0006418554,0.000005726572],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000169075,"about_ca_system_score_gemma":0.002294895,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003598102,"about_ca_topic_score_gemma":0.00001520295,"domain_scores_codex":[0.9928821,0.0008130883,0.0026429,0.001587674,0.0009284078,0.001145868],"domain_scores_gemma":[0.9922419,0.0004882485,0.002589021,0.001437218,0.001641083,0.001602585],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003088021,0.0009764232,0.00008110138,0.003292008,0.006023563,0.0000217782,0.0001300941,0.0001119523,0.0001346465,0.001799402,0.01287668,0.9714643],"study_design_scores_gemma":[0.004649917,0.0002050272,0.002545475,0.004121572,0.01601531,0.000007488296,0.0003981239,0.00003116524,0.00004876997,0.0002863542,0.9704027,0.001288084],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0006368802,0.9621677,0.0223162,0.0002152603,0.00154886,0.003036682,0.009928781,0.00004688583,0.0001026825],"genre_scores_gemma":[0.0001048469,0.9627802,0.02307035,0.001244774,0.008103276,0.0007536737,0.002901486,0.0003231409,0.0007182709],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9701762,"threshold_uncertainty_score":0.9995854,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03447686396329945,"score_gpt":0.3377064726064904,"score_spread":0.303229608643191,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}